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  • Wrong UID 1053080

MOGS-congenital disorder of glycosylation(CDGIIb; CDG2B)

MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
Synonyms: CDG 2B; CDG IIb; Congenital disorder of glycosylation type 2B; GLUCOSIDASE I DEFICIENCY; MOGS-CDG; MOGS-CDG (CDG-IIb)
SNOMED CT: Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (725028009); Carbohydrate deficient glycoprotein syndrome type IIb (725028009); Congenital disorder of glycosylation type 2b (725028009); Congenital disorder of glycosylation type IIb (725028009); Glucosidase 1 deficiency (725028009); MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (725028009)
Modes of inheritance:
 
MOGS (2p13.1)
 
Monarch Initiative: MONDO:0011629
OMIM®: 606056
Orphanet: ORPHA79330

Definition

A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). [from SNOMEDCT_US]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Mueller AL, Payandeh Z, Mohammadkhani N, Mubarak SMH, Zakeri A, Alagheband Bahrami A, Brockmueller A, Shakibaei M
Cells 2021 Nov 4;10(11) doi: 10.3390/cells10113017. PMID: 34831240Free PMC Article
Dashti HM, Mathew TC, Al-Zaid NS
Med Princ Pract 2021;30(3):223-235. Epub 2020 Oct 9 doi: 10.1159/000512142. PMID: 33040057Free PMC Article
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Etiology

He M, Zhou X, Wang X
Signal Transduct Target Ther 2024 Aug 5;9(1):194. doi: 10.1038/s41392-024-01886-1. PMID: 39098853Free PMC Article
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV
Orphanet J Rare Dis 2023 Aug 29;18(1):247. doi: 10.1186/s13023-023-02852-w. PMID: 37644541Free PMC Article
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
Mammadova-Bach E, Jaeken J, Gudermann T, Braun A
Int J Mol Sci 2020 Aug 6;21(16) doi: 10.3390/ijms21165630. PMID: 32781578Free PMC Article
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725

Diagnosis

He M, Zhou X, Wang X
Signal Transduct Target Ther 2024 Aug 5;9(1):194. doi: 10.1038/s41392-024-01886-1. PMID: 39098853Free PMC Article
Madan-Khetarpal S, He M, Wongkittichote P, Dobrowolski SF
Clin Chem 2023 Dec 1;69(12):1432-1434. doi: 10.1093/clinchem/hvad166. PMID: 38037438
Qing L, Li Q, Dong Z
Bull Cancer 2022 Nov;109(11):1202-1216. Epub 2022 Sep 30 doi: 10.1016/j.bulcan.2022.08.001. PMID: 36184332
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
Stowell SR, Ju T, Cummings RD
Annu Rev Pathol 2015;10:473-510. doi: 10.1146/annurev-pathol-012414-040438. PMID: 25621663Free PMC Article

Therapy

Zheng W, Li H, Go Y, Chan XHF, Huang Q, Wu J
Nutrients 2022 Nov 1;14(21) doi: 10.3390/nu14214588. PMID: 36364850Free PMC Article
Guo J, Chen H, Zhang X, Lou W, Zhang P, Qiu Y, Zhang C, Wang Y, Liu WJ
Oxid Med Cell Longev 2021;2021:2074610. Epub 2021 Dec 15 doi: 10.1155/2021/2074610. PMID: 34956436Free PMC Article
Mereiter S, Balmaña M, Campos D, Gomes J, Reis CA
Cancer Cell 2019 Jul 8;36(1):6-16. doi: 10.1016/j.ccell.2019.06.006. PMID: 31287993
Pereira NA, Chan KF, Lin PC, Song Z
MAbs 2018 Jul;10(5):693-711. doi: 10.1080/19420862.2018.1466767. PMID: 29733746Free PMC Article
Lünemann JD, Nimmerjahn F, Dalakas MC
Nat Rev Neurol 2015 Feb;11(2):80-9. Epub 2015 Jan 6 doi: 10.1038/nrneurol.2014.253. PMID: 25561275

Prognosis

Stanczak MA, Rodrigues Mantuano N, Kirchhammer N, Sanin DE, Jacob F, Coelho R, Everest-Dass AV, Wang J, Trefny MP, Monaco G, Bärenwaldt A, Gray MA, Petrone A, Kashyap AS, Glatz K, Kasenda B, Normington K, Broderick J, Peng L, Pearce OMT, Pearce EL, Bertozzi CR, Zippelius A, Läubli H
Sci Transl Med 2022 Nov 2;14(669):eabj1270. doi: 10.1126/scitranslmed.abj1270. PMID: 36322632Free PMC Article
Qing L, Li Q, Dong Z
Bull Cancer 2022 Nov;109(11):1202-1216. Epub 2022 Sep 30 doi: 10.1016/j.bulcan.2022.08.001. PMID: 36184332
Mueller AL, Payandeh Z, Mohammadkhani N, Mubarak SMH, Zakeri A, Alagheband Bahrami A, Brockmueller A, Shakibaei M
Cells 2021 Nov 4;10(11) doi: 10.3390/cells10113017. PMID: 34831240Free PMC Article
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725

Clinical prediction guides

Hoshi RA, Plavša B, Liu Y, Trbojević-Akmačić I, Glynn RJ, Ridker PM, Cummings RD, Gudelj I, Lauc G, Demler OV, Mora S
Circ Res 2024 Mar;134(5):e3-e14. Epub 2024 Feb 13 doi: 10.1161/CIRCRESAHA.123.323623. PMID: 38348651Free PMC Article
Lee HF, Chi CS
Epilepsy Behav 2023 May;142:109214. Epub 2023 Apr 21 doi: 10.1016/j.yebeh.2023.109214. PMID: 37086590
Radovani B, Gudelj I
Front Immunol 2022;13:893365. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.893365. PMID: 35833138Free PMC Article
Dashti H, Pabon Porras MA, Mora S
Adv Exp Med Biol 2021;1325:307-319. doi: 10.1007/978-3-030-70115-4_15. PMID: 34495542
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X
Biochim Biophys Acta Rev Cancer 2021 Apr;1875(2):188409. Epub 2020 Aug 19 doi: 10.1016/j.bbcan.2020.188409. PMID: 32827580

Recent systematic reviews

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Simpson TC, Clarkson JE, Worthington HV, MacDonald L, Weldon JC, Needleman I, Iheozor-Ejiofor Z, Wild SH, Qureshi A, Walker A, Patel VA, Boyers D, Twigg J
Cochrane Database Syst Rev 2022 Apr 14;4(4):CD004714. doi: 10.1002/14651858.CD004714.pub4. PMID: 35420698Free PMC Article
Guo J, Chen H, Zhang X, Lou W, Zhang P, Qiu Y, Zhang C, Wang Y, Liu WJ
Oxid Med Cell Longev 2021;2021:2074610. Epub 2021 Dec 15 doi: 10.1155/2021/2074610. PMID: 34956436Free PMC Article
Peer N, Balakrishna Y, Durao S
Cochrane Database Syst Rev 2020 May 29;5(5):CD005266. doi: 10.1002/14651858.CD005266.pub2. PMID: 32470201Free PMC Article
Xue M, Xu W, Ou YN, Cao XP, Tan MS, Tan L, Yu JT
Ageing Res Rev 2019 Nov;55:100944. Epub 2019 Aug 17 doi: 10.1016/j.arr.2019.100944. PMID: 31430566

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